Variant report

Variant	rs12081510
Chromosome Location	chr1:186507550-186507551
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186501486..186504451-chr1:186506329..186509291,2	K562	blood:
2	chr1:186344658..186346802-chr1:186505094..186507834,3	K562	blood:
3	chr1:186344658..186346288-chr1:186505094..186507834,2	K562	blood:

Variant related genes	Relation type
ENSG00000047410	Chromatin interaction
ENSG00000157181	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10798041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10798048	1.00[CEU][hapmap]
rs10911861	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10911863	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10911864	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10911866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10911876	1.00[CEU][hapmap]
rs10911878	1.00[CEU][hapmap]
rs10911886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10911904	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10911905	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1119231	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11583191	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12057695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12404145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12407957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1882926	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1929095	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs20417	1.00[CHB][hapmap]
rs2066826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2143416	1.00[CHB][hapmap]
rs2143417	1.00[CHB][hapmap]
rs2179555	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2383477	1.00[CHB][hapmap]
rs2891247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs35066734	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4648250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4648276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6672638	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7512750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186503600-186507600	Enhancers	NHDF-Ad	bronchial
2	chr1:186503800-186508000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:186504800-186510200	Weak transcription	Right Atrium	heart
4	chr1:186506000-186507600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:186506400-186509600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:186506400-186512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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